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"XP_005259674.1:p.Gln170_Lys600delinsGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535037" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.2:c.286C>T" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Gln96Ter", "hgvsWellDefined": "XP_011526511.1:p.Gln96_Lys526delinsGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.1133C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753739.1:n.1133C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.1133C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA118802", "coordinates": [ { "allele": "T", "end": 1644, "referenceAllele": "C", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.508C>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Gln170Ter", "hgvsWellDefined": "NP_000446.1:p.Gln170_Gln433delinsGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.508C>T" }, "RefSeq": { "hgvs": "NM_000455.5:c.508C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Gln170Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Gln170Ter" } } } } ], "type": "nucleotide" }